Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa.
Identifieur interne : 000885 ( PubMed/Checkpoint ); précédent : 000884; suivant : 000886Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa.
Auteurs : S. Lesage [France] ; C. Condroyer ; N. Hecham ; M. Anheim ; S. Belarbi ; E. Lohman ; F. Viallet ; P. Pollak ; M. Abada ; A. Dürr ; M. Tazir ; A. BriceSource :
- Neurology [ 1526-632X ] ; 2011.
English descriptors
- KwdEn :
- Adolescent, Adult, Africa, Northern (ethnology), Aged, Aged, 80 and over, Female, Glucosylceramidase (genetics), Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Mutation, Parkinson Disease (ethnology), Parkinson Disease (genetics), Protein-Serine-Threonine Kinases (genetics), Risk Factors, Young Adult.
- MESH :
- chemical , genetics : Glucosylceramidase, Protein-Serine-Threonine Kinases.
- ethnology : Africa, Northern, Parkinson Disease.
- genetics : Parkinson Disease.
- Adolescent, Adult, Aged, Aged, 80 and over, Female, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Mutation, Risk Factors, Young Adult.
DOI: 10.1212/WNL.0b013e318207b01e
PubMed: 21242499
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:21242499Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa.</title>
<author><name sortKey="Lesage, S" sort="Lesage, S" uniqKey="Lesage S" first="S" last="Lesage">S. Lesage</name>
<affiliation wicri:level="1"><nlm:affiliation>INSERM UMR_S975 (formerly UMR_S679), Hôpital de la Salpêtrière, Paris cedex 13, France. alexis.brice@upmc.fr</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR_S975 (formerly UMR_S679), Hôpital de la Salpêtrière, Paris cedex 13</wicri:regionArea>
<wicri:noRegion>Paris cedex 13</wicri:noRegion>
<wicri:noRegion>Paris cedex 13</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Condroyer, C" sort="Condroyer, C" uniqKey="Condroyer C" first="C" last="Condroyer">C. Condroyer</name>
</author>
<author><name sortKey="Hecham, N" sort="Hecham, N" uniqKey="Hecham N" first="N" last="Hecham">N. Hecham</name>
</author>
<author><name sortKey="Anheim, M" sort="Anheim, M" uniqKey="Anheim M" first="M" last="Anheim">M. Anheim</name>
</author>
<author><name sortKey="Belarbi, S" sort="Belarbi, S" uniqKey="Belarbi S" first="S" last="Belarbi">S. Belarbi</name>
</author>
<author><name sortKey="Lohman, E" sort="Lohman, E" uniqKey="Lohman E" first="E" last="Lohman">E. Lohman</name>
</author>
<author><name sortKey="Viallet, F" sort="Viallet, F" uniqKey="Viallet F" first="F" last="Viallet">F. Viallet</name>
</author>
<author><name sortKey="Pollak, P" sort="Pollak, P" uniqKey="Pollak P" first="P" last="Pollak">P. Pollak</name>
</author>
<author><name sortKey="Abada, M" sort="Abada, M" uniqKey="Abada M" first="M" last="Abada">M. Abada</name>
</author>
<author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name>
</author>
<author><name sortKey="Tazir, M" sort="Tazir, M" uniqKey="Tazir M" first="M" last="Tazir">M. Tazir</name>
</author>
<author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2011">2011</date>
<idno type="RBID">pubmed:21242499</idno>
<idno type="pmid">21242499</idno>
<idno type="doi">10.1212/WNL.0b013e318207b01e</idno>
<idno type="wicri:Area/PubMed/Corpus">000A08</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000A08</idno>
<idno type="wicri:Area/PubMed/Curation">000968</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000968</idno>
<idno type="wicri:Area/PubMed/Checkpoint">000968</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000968</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa.</title>
<author><name sortKey="Lesage, S" sort="Lesage, S" uniqKey="Lesage S" first="S" last="Lesage">S. Lesage</name>
<affiliation wicri:level="1"><nlm:affiliation>INSERM UMR_S975 (formerly UMR_S679), Hôpital de la Salpêtrière, Paris cedex 13, France. alexis.brice@upmc.fr</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM UMR_S975 (formerly UMR_S679), Hôpital de la Salpêtrière, Paris cedex 13</wicri:regionArea>
<wicri:noRegion>Paris cedex 13</wicri:noRegion>
<wicri:noRegion>Paris cedex 13</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Condroyer, C" sort="Condroyer, C" uniqKey="Condroyer C" first="C" last="Condroyer">C. Condroyer</name>
</author>
<author><name sortKey="Hecham, N" sort="Hecham, N" uniqKey="Hecham N" first="N" last="Hecham">N. Hecham</name>
</author>
<author><name sortKey="Anheim, M" sort="Anheim, M" uniqKey="Anheim M" first="M" last="Anheim">M. Anheim</name>
</author>
<author><name sortKey="Belarbi, S" sort="Belarbi, S" uniqKey="Belarbi S" first="S" last="Belarbi">S. Belarbi</name>
</author>
<author><name sortKey="Lohman, E" sort="Lohman, E" uniqKey="Lohman E" first="E" last="Lohman">E. Lohman</name>
</author>
<author><name sortKey="Viallet, F" sort="Viallet, F" uniqKey="Viallet F" first="F" last="Viallet">F. Viallet</name>
</author>
<author><name sortKey="Pollak, P" sort="Pollak, P" uniqKey="Pollak P" first="P" last="Pollak">P. Pollak</name>
</author>
<author><name sortKey="Abada, M" sort="Abada, M" uniqKey="Abada M" first="M" last="Abada">M. Abada</name>
</author>
<author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name>
</author>
<author><name sortKey="Tazir, M" sort="Tazir, M" uniqKey="Tazir M" first="M" last="Tazir">M. Tazir</name>
</author>
<author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name>
</author>
</analytic>
<series><title level="j">Neurology</title>
<idno type="eISSN">1526-632X</idno>
<imprint><date when="2011" type="published">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Africa, Northern (ethnology)</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Female</term>
<term>Glucosylceramidase (genetics)</term>
<term>Humans</term>
<term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Parkinson Disease (ethnology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>Risk Factors</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term>
<term>Protein-Serine-Threonine Kinases</term>
</keywords>
<keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Africa, Northern</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Female</term>
<term>Humans</term>
<term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Risk Factors</term>
<term>Young Adult</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">21242499</PMID>
<DateCreated><Year>2011</Year>
<Month>01</Month>
<Day>18</Day>
</DateCreated>
<DateCompleted><Year>2011</Year>
<Month>02</Month>
<Day>14</Day>
</DateCompleted>
<DateRevised><Year>2016</Year>
<Month>11</Month>
<Day>25</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1526-632X</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>76</Volume>
<Issue>3</Issue>
<PubDate><Year>2011</Year>
<Month>Jan</Month>
<Day>18</Day>
</PubDate>
</JournalIssue>
<Title>Neurology</Title>
<ISOAbbreviation>Neurology</ISOAbbreviation>
</Journal>
<ArticleTitle>Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa.</ArticleTitle>
<Pagination><MedlinePgn>301-3</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1212/WNL.0b013e318207b01e</ELocationID>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lesage</LastName>
<ForeName>S</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>INSERM UMR_S975 (formerly UMR_S679), Hôpital de la Salpêtrière, Paris cedex 13, France. alexis.brice@upmc.fr</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Condroyer</LastName>
<ForeName>C</ForeName>
<Initials>C</Initials>
</Author>
<Author ValidYN="Y"><LastName>Hecham</LastName>
<ForeName>N</ForeName>
<Initials>N</Initials>
</Author>
<Author ValidYN="Y"><LastName>Anheim</LastName>
<ForeName>M</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y"><LastName>Belarbi</LastName>
<ForeName>S</ForeName>
<Initials>S</Initials>
</Author>
<Author ValidYN="Y"><LastName>Lohman</LastName>
<ForeName>E</ForeName>
<Initials>E</Initials>
</Author>
<Author ValidYN="Y"><LastName>Viallet</LastName>
<ForeName>F</ForeName>
<Initials>F</Initials>
</Author>
<Author ValidYN="Y"><LastName>Pollak</LastName>
<ForeName>P</ForeName>
<Initials>P</Initials>
</Author>
<Author ValidYN="Y"><LastName>Abada</LastName>
<ForeName>M</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y"><LastName>Dürr</LastName>
<ForeName>A</ForeName>
<Initials>A</Initials>
</Author>
<Author ValidYN="Y"><LastName>Tazir</LastName>
<ForeName>M</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y"><LastName>Brice</LastName>
<ForeName>A</ForeName>
<Initials>A</Initials>
</Author>
<Author ValidYN="Y"><CollectiveName>French Parkinson Disease Genetic Group</CollectiveName>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
</PublicationTypeList>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Neurology</MedlineTA>
<NlmUniqueID>0401060</NlmUniqueID>
<ISSNLinking>0028-3878</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber>
<NameOfSubstance UI="C495280">LRRK2 protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber>
<NameOfSubstance UI="D000071158">Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber>
<NameOfSubstance UI="D017346">Protein-Serine-Threonine Kinases</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 3.2.1.45</RegistryNumber>
<NameOfSubstance UI="D005962">Glucosylceramidase</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>AIM</CitationSubset>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000352" MajorTopicYN="N">Africa, Northern</DescriptorName>
<QualifierName UI="Q000208" MajorTopicYN="N">ethnology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000369" MajorTopicYN="N">Aged, 80 and over</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005962" MajorTopicYN="N">Glucosylceramidase</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000071158" MajorTopicYN="N">Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName>
<QualifierName UI="Q000208" MajorTopicYN="Y">ethnology</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D017346" MajorTopicYN="N">Protein-Serine-Threonine Kinases</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D012307" MajorTopicYN="N">Risk Factors</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName>
</MeshHeading>
</MeshHeadingList>
<InvestigatorList><Investigator ValidYN="Y"><LastName>Agid</LastName>
<ForeName>Yves</ForeName>
<Initials>Y</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Anheim</LastName>
<ForeName>Mathieu</ForeName>
<Initials>M</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Bonnet</LastName>
<ForeName>A-M</ForeName>
<Initials>AM</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Borg</LastName>
<ForeName>Michel</ForeName>
<Initials>M</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Brice</LastName>
<ForeName>Alexis</ForeName>
<Initials>A</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Broussolle</LastName>
<ForeName>Emmanuel</ForeName>
<Initials>E</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Corvol</LastName>
<ForeName>Jean-Christophe</ForeName>
<Initials>JC</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Damier</LastName>
<ForeName>Philippe</ForeName>
<Initials>P</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Destée</LastName>
<ForeName>Alain</ForeName>
<Initials>A</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Dürr</LastName>
<ForeName>Alexandra</ForeName>
<Initials>A</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Durif</LastName>
<ForeName>Franck</ForeName>
<Initials>F</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Lesage</LastName>
<ForeName>Suzanne</ForeName>
<Initials>S</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Lohmann</LastName>
<ForeName>Ebba</ForeName>
<Initials>E</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Martinez</LastName>
<ForeName>Maria</ForeName>
<Initials>M</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Penet</LastName>
<ForeName>Christiane</ForeName>
<Initials>C</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Pollak</LastName>
<ForeName>Pierre</ForeName>
<Initials>P</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Rascol</LastName>
<ForeName>Olivier</ForeName>
<Initials>O</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Tison</LastName>
<ForeName>François</ForeName>
<Initials>F</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Tranchant</LastName>
<ForeName>Christine</ForeName>
<Initials>C</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Vérin</LastName>
<ForeName>Marc</ForeName>
<Initials>M</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Viallet</LastName>
<ForeName>François</ForeName>
<Initials>F</Initials>
</Investigator>
<Investigator ValidYN="Y"><LastName>Vidailhet</LastName>
<ForeName>Marie</ForeName>
<Initials>M</Initials>
</Investigator>
</InvestigatorList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2011</Year>
<Month>1</Month>
<Day>19</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed"><Year>2011</Year>
<Month>1</Month>
<Day>19</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2011</Year>
<Month>2</Month>
<Day>15</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">21242499</ArticleId>
<ArticleId IdType="pii">76/3/301</ArticleId>
<ArticleId IdType="doi">10.1212/WNL.0b013e318207b01e</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
<affiliations><list><country><li>France</li>
</country>
</list>
<tree><noCountry><name sortKey="Abada, M" sort="Abada, M" uniqKey="Abada M" first="M" last="Abada">M. Abada</name>
<name sortKey="Anheim, M" sort="Anheim, M" uniqKey="Anheim M" first="M" last="Anheim">M. Anheim</name>
<name sortKey="Belarbi, S" sort="Belarbi, S" uniqKey="Belarbi S" first="S" last="Belarbi">S. Belarbi</name>
<name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name>
<name sortKey="Condroyer, C" sort="Condroyer, C" uniqKey="Condroyer C" first="C" last="Condroyer">C. Condroyer</name>
<name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name>
<name sortKey="Hecham, N" sort="Hecham, N" uniqKey="Hecham N" first="N" last="Hecham">N. Hecham</name>
<name sortKey="Lohman, E" sort="Lohman, E" uniqKey="Lohman E" first="E" last="Lohman">E. Lohman</name>
<name sortKey="Pollak, P" sort="Pollak, P" uniqKey="Pollak P" first="P" last="Pollak">P. Pollak</name>
<name sortKey="Tazir, M" sort="Tazir, M" uniqKey="Tazir M" first="M" last="Tazir">M. Tazir</name>
<name sortKey="Viallet, F" sort="Viallet, F" uniqKey="Viallet F" first="F" last="Viallet">F. Viallet</name>
</noCountry>
<country name="France"><noRegion><name sortKey="Lesage, S" sort="Lesage, S" uniqKey="Lesage S" first="S" last="Lesage">S. Lesage</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonFranceV1/Data/PubMed/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000885 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd -nk 000885 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= ParkinsonFranceV1 |flux= PubMed |étape= Checkpoint |type= RBID |clé= pubmed:21242499 |texte= Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/RBID.i -Sk "pubmed:21242499" \ | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd \ | NlmPubMed2Wicri -a ParkinsonFranceV1
![]() | This area was generated with Dilib version V0.6.29. | ![]() |